Incidental Mutation 'IGL00582:Zfp248'
ID14954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp248
Ensembl Gene ENSMUSG00000030145
Gene Namezinc finger protein 248
SynonymsE130106N01Rik, 2810037F07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL00582
Quality Score
Status
Chromosome6
Chromosomal Location118427319-118455528 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118429732 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 299 (Y299N)
Ref Sequence ENSEMBL: ENSMUSP00000068807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069292] [ENSMUST00000159403] [ENSMUST00000161519]
Predicted Effect probably damaging
Transcript: ENSMUST00000069292
AA Change: Y299N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068807
Gene: ENSMUSG00000030145
AA Change: Y299N

DomainStartEndE-ValueType
KRAB 8 68 2.4e-35 SMART
internal_repeat_1 209 375 2.52e-18 PROSPERO
ZnF_C2H2 377 399 3.89e-3 SMART
ZnF_C2H2 405 427 3.95e-4 SMART
ZnF_C2H2 433 455 4.24e-4 SMART
ZnF_C2H2 461 483 8.94e-3 SMART
ZnF_C2H2 489 511 8.47e-4 SMART
ZnF_C2H2 517 539 8.02e-5 SMART
ZnF_C2H2 545 567 6.52e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159403
Predicted Effect probably damaging
Transcript: ENSMUST00000161519
AA Change: Y198N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124539
Gene: ENSMUSG00000030145
AA Change: Y198N

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 165 188 3.3e-2 PFAM
ZnF_C2H2 276 298 3.89e-3 SMART
ZnF_C2H2 304 326 3.95e-4 SMART
ZnF_C2H2 332 354 4.24e-4 SMART
ZnF_C2H2 360 382 8.94e-3 SMART
ZnF_C2H2 388 410 8.47e-4 SMART
ZnF_C2H2 416 438 8.02e-5 SMART
ZnF_C2H2 444 466 6.52e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175338
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C A 9: 70,766,895 T513K possibly damaging Het
Capn1 C A 19: 6,007,269 G383V probably damaging Het
Csf1 A G 3: 107,756,727 S42P probably benign Het
Hipk2 A G 6: 38,819,322 probably benign Het
Knl1 A T 2: 119,102,499 E2046D probably benign Het
Lamc3 T C 2: 31,900,581 V271A probably damaging Het
Pik3c2a G T 7: 116,376,283 T683K possibly damaging Het
Ranbp17 G A 11: 33,504,683 T55I probably damaging Het
Sema3d C T 5: 12,585,195 R743C probably damaging Het
Setbp1 G A 18: 78,755,679 Q1429* probably null Het
Sirt7 A G 11: 120,618,909 I383T probably benign Het
Sis T C 3: 72,946,636 I503V probably benign Het
Thegl A T 5: 77,060,831 Y402F probably damaging Het
Usp17le T C 7: 104,768,787 T383A probably benign Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Other mutations in Zfp248
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02268:Zfp248 APN 6 118453840 intron probably benign
R1374:Zfp248 UTSW 6 118433373 missense probably damaging 1.00
R1678:Zfp248 UTSW 6 118429804 missense probably benign 0.02
R1794:Zfp248 UTSW 6 118429303 missense probably damaging 1.00
R1834:Zfp248 UTSW 6 118428970 missense probably damaging 0.98
R3900:Zfp248 UTSW 6 118429566 missense probably damaging 1.00
R3948:Zfp248 UTSW 6 118430194 frame shift probably null
R4661:Zfp248 UTSW 6 118433307 missense possibly damaging 0.84
R4810:Zfp248 UTSW 6 118429846 missense possibly damaging 0.68
R4924:Zfp248 UTSW 6 118429072 missense probably damaging 1.00
R4926:Zfp248 UTSW 6 118429826 missense possibly damaging 0.74
Posted On2012-12-06